Lynch H T, Smyrk T, Lynch J, Fitzgibbons R, Lanspa S, McGinn T
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA.
Eur J Cancer. 1995 Jul-Aug;31A(7-8):1039-46. doi: 10.1016/0959-8049(95)00126-4.
Hereditary non-polyposis colorectal cancer (HNPCC) is the most common hereditary form of colorectal cancer (CRC), accounting for approximately 10% of the total CRC burden. HNPCC lacks premonitory physical stigmata, thereby making the family history crucial for diagnosis. Advances in molecular genetics during the past 2 years have led to the cloning of four HNPCC genes (MHS2, MLH1, PMS1 and PMS2). It is now possible to provide presymptomatic DNA testing followed by genetic counselling for gene carriers. Some studies have shown that adenomas in HNPCC are larger, more villous, and have more high grade dysplasia than sporadic cases, suggesting an accelerated adenoma-carcinoma sequence. Given the early age of onset and proximal predominance of CRC, we initiate colonoscopy at age 20-25 years and we recommend that it be performed every 1-2 years. The wealth of clinical and molecular genetic knowledge currently available to physicians about HNPCC can be used effectively for cancer control.
遗传性非息肉病性结直肠癌（HNPCC）是结直肠癌（CRC）最常见的遗传形式，约占CRC总负担的10%。HNPCC缺乏先兆体征，因此家族史对诊断至关重要。过去两年分子遗传学的进展导致克隆出四个HNPCC基因（MHS2、MLH1、PMS1和PMS2）。现在可以为基因携带者提供症状前DNA检测并进行遗传咨询。一些研究表明，与散发性病例相比，HNPCC中的腺瘤更大、更呈绒毛状，且高级别发育异常更多，提示腺瘤-癌序列加速。鉴于CRC发病年龄早且近端居多，我们在20-25岁开始进行结肠镜检查，并建议每1-2年进行一次。目前医生可获得的关于HNPCC的丰富临床和分子遗传学知识可有效用于癌症控制。
